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Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH
Author(s) -
Aruta Francesco,
Severi Daniele,
Iovino Aniello,
Spina Emanuele,
Barghigiani Melissa,
Ruggiero Lucia,
Iodice Rosa,
Santorelli Filippo Maria,
Manganelli Fiore,
Tozza Stefano
Publication year - 2021
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12454
Subject(s) - frameshift mutation , medicine , motor neuron , weakness , neuroscience , physical medicine and rehabilitation , gene , genetics , anatomy , biology , pathology , disease , mutation
Charcot‐Marie‐Tooth (CMT) diseases are a clinically and genetically heterogeneous group of disorders. Different variants in the neurofilament heavy chain ( NEFH ) gene have been described to cause the CMT2CC subtype. Here we report the first Italian patient affected by CMT2CC, harboring a novel variant in NEFH . In describing our patient, we also reviewed previously CMT2CC individuals, and suggested to consider NEFH variant if patients have an axonal sensory‐motor neuropathy with a prominent proximal muscles involvement with early requirement of walking aids or wheelchair, remembering a motor neuron disorder.